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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-138424298-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424298&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NHSL1",
"hgnc_id": 21021,
"hgvs_c": "c.4616C>T",
"hgvs_p": "p.Pro1539Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_020464.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15406978130340576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "P",
"aa_start": 1535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4808,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4604,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001144060.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4604C>T",
"hgvs_p": "p.Pro1535Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343505.10",
"protein_coding": true,
"protein_id": "NP_001137532.1",
"strand": false,
"transcript": "NM_001144060.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "P",
"aa_start": 1535,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4808,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4604,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000343505.10",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4604C>T",
"hgvs_p": "p.Pro1535Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144060.2",
"protein_coding": true,
"protein_id": "ENSP00000344672.5",
"strand": false,
"transcript": "ENST00000343505.10",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "P",
"aa_start": 1612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7579,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000491526.7",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4835C>T",
"hgvs_p": "p.Pro1612Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433523.2",
"strand": false,
"transcript": "ENST00000491526.7",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "P",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7529,
"cdna_start": 5274,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4616,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020464.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4616C>T",
"hgvs_p": "p.Pro1539Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065197.1",
"strand": false,
"transcript": "NM_020464.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "P",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7500,
"cdna_start": 5245,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4616,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000427025.6",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4616C>T",
"hgvs_p": "p.Pro1539Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394546.2",
"strand": false,
"transcript": "ENST00000427025.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "P",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7592,
"cdna_start": 5337,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4889,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535976.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4889C>T",
"hgvs_p": "p.Pro1630Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534278.2",
"strand": false,
"transcript": "XM_011535976.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "P",
"aa_start": 1612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 5283,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419109.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4835C>T",
"hgvs_p": "p.Pro1612Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275065.1",
"strand": false,
"transcript": "XM_047419109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "P",
"aa_start": 1601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7391,
"cdna_start": 5136,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4802,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535966.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4802C>T",
"hgvs_p": "p.Pro1601Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534268.1",
"strand": false,
"transcript": "XM_011535966.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "P",
"aa_start": 1601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 5080,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4802,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535967.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4802C>T",
"hgvs_p": "p.Pro1601Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534269.1",
"strand": false,
"transcript": "XM_011535967.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "P",
"aa_start": 1601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 5046,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4802,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017011086.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4802C>T",
"hgvs_p": "p.Pro1601Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866575.1",
"strand": false,
"transcript": "XM_017011086.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1657,
"aa_ref": "P",
"aa_start": 1586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7460,
"cdna_start": 5205,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419110.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4757C>T",
"hgvs_p": "p.Pro1586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275066.1",
"strand": false,
"transcript": "XM_047419110.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1654,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7337,
"cdna_start": 5082,
"cds_end": null,
"cds_length": 4965,
"cds_start": 4748,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419111.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275067.1",
"strand": false,
"transcript": "XM_047419111.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 5026,
"cds_end": null,
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"cds_start": 4748,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419112.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275068.1",
"strand": false,
"transcript": "XM_047419112.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1639,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 5151,
"cds_end": null,
"cds_length": 4920,
"cds_start": 4703,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419113.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4703C>T",
"hgvs_p": "p.Pro1568Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275069.1",
"strand": false,
"transcript": "XM_047419113.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7949,
"cdna_start": 5694,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4697,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017011087.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4697C>T",
"hgvs_p": "p.Pro1566Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866576.1",
"strand": false,
"transcript": "XM_017011087.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1625,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 4817,
"cds_end": null,
"cds_length": 4878,
"cds_start": 4661,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535969.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4661C>T",
"hgvs_p": "p.Pro1554Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534271.1",
"strand": false,
"transcript": "XM_011535969.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1624,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7117,
"cdna_start": 4862,
"cds_end": null,
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"cds_start": 4658,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535970.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4658C>T",
"hgvs_p": "p.Pro1553Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011534272.1",
"strand": false,
"transcript": "XM_011535970.3",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 11795,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4652,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017011088.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4652C>T",
"hgvs_p": "p.Pro1551Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866577.1",
"strand": false,
"transcript": "XM_017011088.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5640,
"cds_end": null,
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"cds_start": 4643,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419114.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4643C>T",
"hgvs_p": "p.Pro1548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275070.1",
"strand": false,
"transcript": "XM_047419114.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1618,
"aa_ref": "P",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13293,
"cdna_start": 11038,
"cds_end": null,
"cds_length": 4857,
"cds_start": 4640,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011535971.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4640C>T",
"hgvs_p": "p.Pro1547Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534273.1",
"strand": false,
"transcript": "XM_011535971.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "P",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 4713,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4616,
"consequences": [
"missense_variant"
],
"exon_count": 9,
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